Damián et al., 2023 effectively characterized two cases of congenital aniridia after a decades-long diagnostic odyssey. In one of these cases, they found a cryptic 4.9 Mb de novo inversion disrupting intron 7 of PAX6 while in the other they were able to reclassify a balanced t (6; 11) translocation cytogenetically identified years earlier and erroneously considered as non-pathogenic, by precisely mapping its breakpoint within a PAX6 enhancer. Here, PAX6 is linked to isolated aniridia.